The Role of Dipeptide Repeats in C9ORF72-Related ALS-FTD. (Q39153670)

9 September 2017

The Role of Dipeptide Repeats in C9ORF72-Related ALS-FTD. (English)

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amyotrophic lateral sclerosis

9 September 2017

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2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28243191%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

Brian D Freibaum

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28243191%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

publication date

13 February 2017

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Frontiers in Molecular Neuroscience

9 September 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28243191%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

10

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13 June 2020

page(s)

35

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Toxic PRn poly-dipeptides encoded by the C9orf72 repeat expansion block nuclear import and export

13 June 2020

cites work

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Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia

10 September 2017

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Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers

10 September 2017

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Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons

10 September 2017

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Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

10 September 2017

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C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

10 September 2017

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Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation

10 September 2017

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Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.

10 September 2017

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The Glycine-Alanine Dipeptide Repeat from C9orf72 Hexanucleotide Expansions Forms Toxic Amyloids Possessing Cell-to-Cell Transmission Properties

10 September 2017

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Transport Selectivity of Nuclear Pores, Phase Separation, and Membraneless Organelles

10 September 2017

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Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

10 September 2017

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C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

10 September 2017

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An amyloid-like cascade hypothesis for C9orf72 ALS/FTD

10 September 2017

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Phase separation by low complexity domains promotes stress granule assembly and drives pathological fibrillization

10 September 2017

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Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review

10 September 2017

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GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

10 September 2017

1 reference

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The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

10 September 2017

1 reference

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Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5303742

Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

10 September 2017

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C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

10 September 2017

1 reference

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FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions

10 September 2017

1 reference

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Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

10 September 2017

1 reference

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Nuclear accumulation of mRNAs underlies G4C2-repeat-induced translational repression in a cellular model of C9orf72 ALS.

10 September 2017

1 reference

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Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity

10 September 2017

1 reference

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Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death

10 September 2017

1 reference

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Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene

10 September 2017

1 reference

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Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

10 September 2017

1 reference

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C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

10 September 2017

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Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

10 September 2017

1 reference

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Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

10 September 2017

1 reference

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C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

10 September 2017

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Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

10 September 2017

1 reference

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RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

10 September 2017

1 reference

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C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.

10 September 2017

1 reference

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Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5303742

RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5303742

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

10 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5303742

Repeat-associated non-ATG (RAN) translation in neurological disease

10 September 2017

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The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures

10 September 2017

1 reference

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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

10 September 2017

1 reference

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The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

10 September 2017

1 reference

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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

10 September 2017

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Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

10 September 2017

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Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

10 September 2017

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Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

10 September 2017

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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

10 September 2017

1 reference

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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

10 September 2017

1 reference

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Non-ATG-initiated translation directed by microsatellite expansions

10 September 2017

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The multifunctional nucleolus

10 September 2017

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Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

10 September 2017

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Simple sequences are rare in the Protein Data Bank

10 September 2017

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Natively unfolded proteins: a point where biology waits for physics

10 September 2017

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The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains.

10 September 2017

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C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles

10 September 2017

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Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS.

15 June 2018

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C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

15 June 2018

1 reference

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C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

15 June 2018

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An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

15 June 2018

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Cell-to-Cell Transmission of Dipeptide Repeat Proteins Linked to C9orf72-ALS/FTD.

15 June 2018

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C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD.

21 August 2018

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C9orf72 is required for proper macrophage and microglial function in mice

21 August 2018

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Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.

21 August 2018

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Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

21 August 2018

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Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations

21 August 2018

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hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

21 August 2018

1 reference

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A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.

21 August 2018

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UNC-119 suppresses axon branching in C. elegans.

21 August 2018

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Polymer physics of intracellular phase transitions

21 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.3389%2FFNMOL.2017.00035

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.3389%2FFNMOL.2017.00035

21 January 2018

Identifiers

DOI

10.3389/FNMOL.2017.00035

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28243191%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28243191%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1 reference